Very low alpha-fetoprotein in Down syndrome maternal serum screening
Objective To establish the frequency of very low maternal serum AFP and to differentiate congenital AFP deficiency from those diseases known to be associated with low AFP. Methods AFP values below 2 µg/L and borderline values up to 3 µg/L were retrospectively analysed in 839 773 singleton pregnancie...
Gespeichert in:
| Veröffentlicht in: | Prenatal diagnosis 2003-07, Vol.23 (7), p.584-587 |
|---|---|
| Hauptverfasser: | , , , , , , , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | 587 |
|---|---|
| container_issue | 7 |
| container_start_page | 584 |
| container_title | Prenatal diagnosis |
| container_volume | 23 |
| creator | Muller, Françoise Dreux, Sophie Sault, Corinne Galland, Armelle Puissant, Hugues Couplet, Gisèle Lemay, Catherine Larcher, Marie-Estelle Renom, Gilles |
| description | Objective
To establish the frequency of very low maternal serum AFP and to differentiate congenital AFP deficiency from those diseases known to be associated with low AFP.
Methods
AFP values below 2 µg/L and borderline values up to 3 µg/L were retrospectively analysed in 839 773 singleton pregnancies included in a programme for routine screening of trisomy 21 maternal serum markers.
Results
Serum AFP was undetectable (≤2 µg/L) in 8 cases, giving a frequency of 1/105 000. The calculated risk of Down syndrome was ≥1/250 in 5 cases. Fetal karyotype was normal. Seven of these pregnancies went to term (39–41 weeks) uneventfully, and birth weight was normal (3050–4110 g). In the 8th case, fetal death occurred at 35 weeks due to severe maternal diabetes. AFP levels between 2.1 and 3.0 µg/L were noted in 7 other cases. The calculated risk of Down syndrome was ≥1/250 in 5 cases, and fetal karyotype was normal. Pregnancies went to term in 4 cases (33–41 weeks), and birth weight was normal (3000–3380 g). In 3 cases, low hCG ( |
| doi_str_mv | 10.1002/pd.646 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_73471734</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>73471734</sourcerecordid><originalsourceid>FETCH-LOGICAL-c3776-b3beafe74aaa31318a7d504e356deb3e66f07f5deb492127e7e41d377699b5c13</originalsourceid><addsrcrecordid>eNp10E1PhDAQBuDGaNx11Z9guGjigbWlhdKj2dXVuH4kfh2bAoOiULCFrPx7a5a4J5OmncPTmcmL0CHBU4JxcNZk04hFW2hMsOA-DgK6jcaYuJrGIRmhPWs_nIsDwXfRiARxFONYjNH8BUzvlfXKU2Xzrvwc2roxdQuF9tyZ1yvt2V5npq7Aq1QLRqvSs2C6yrOpAdCFfttHO7kqLRwM7wQ9X148za785f3iena-9FPKeeQnNAGVA2dKKUooiRXPQsyAhlEGCYUoyjHPQ1czEZCAAwdGst-vQiRhSugEnaz7ug2_OrCtrAqbQlkqDXVnJaeME3dtYGpqaw3ksjFFpUwvCZa_eckmky4vB4-Gjl1SQbZhQ0AOHA9A2VSVuVE6LezGMcEYpty507VbFSX0_4yTD_P1UH9tC9vC959V5lNGnPJQvt4t5Iwsb8Rt_CgZ_QHVzY5n</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>73471734</pqid></control><display><type>article</type><title>Very low alpha-fetoprotein in Down syndrome maternal serum screening</title><source>MEDLINE</source><source>Access via Wiley Online Library</source><creator>Muller, Françoise ; Dreux, Sophie ; Sault, Corinne ; Galland, Armelle ; Puissant, Hugues ; Couplet, Gisèle ; Lemay, Catherine ; Larcher, Marie-Estelle ; Renom, Gilles</creator><creatorcontrib>Muller, Françoise ; Dreux, Sophie ; Sault, Corinne ; Galland, Armelle ; Puissant, Hugues ; Couplet, Gisèle ; Lemay, Catherine ; Larcher, Marie-Estelle ; Renom, Gilles ; ABA Group ; for the ABA Group</creatorcontrib><description>Objective
To establish the frequency of very low maternal serum AFP and to differentiate congenital AFP deficiency from those diseases known to be associated with low AFP.
Methods
AFP values below 2 µg/L and borderline values up to 3 µg/L were retrospectively analysed in 839 773 singleton pregnancies included in a programme for routine screening of trisomy 21 maternal serum markers.
Results
Serum AFP was undetectable (≤2 µg/L) in 8 cases, giving a frequency of 1/105 000. The calculated risk of Down syndrome was ≥1/250 in 5 cases. Fetal karyotype was normal. Seven of these pregnancies went to term (39–41 weeks) uneventfully, and birth weight was normal (3050–4110 g). In the 8th case, fetal death occurred at 35 weeks due to severe maternal diabetes. AFP levels between 2.1 and 3.0 µg/L were noted in 7 other cases. The calculated risk of Down syndrome was ≥1/250 in 5 cases, and fetal karyotype was normal. Pregnancies went to term in 4 cases (33–41 weeks), and birth weight was normal (3000–3380 g). In 3 cases, low hCG (<0.6 MoM) was associated with low AFP, and fetal death occurred at 15 to 16 weeks.
Conclusion
Once technical errors have been excluded (repeat assay in a second run, calcium assayed to exclude the interference of EDTA for fluorimetric methods, dilution to exclude interfering antibodies, running on an alternative analyser, checking a second sample), very low second‐trimester maternal serum AFP should prompt ultrasound examination in order to check fetal viability. Congenital AFP deficiency, an extremely rare disorder (1/100 000), should be suspected. It has no consequences for fetal and infant development, and parents should be reassured. Copyright © 2003 John Wiley & Sons, Ltd.</description><identifier>ISSN: 0197-3851</identifier><identifier>EISSN: 1097-0223</identifier><identifier>DOI: 10.1002/pd.646</identifier><identifier>PMID: 12868089</identifier><identifier>CODEN: PRDIDM</identifier><language>eng</language><publisher>Chichester, UK: John Wiley & Sons, Ltd</publisher><subject>Adult ; AFP ; alpha-Fetoproteins - deficiency ; alpha-Fetoproteins - metabolism ; Biological and medical sciences ; Cohort Studies ; congenital deficiency ; Deficiency Diseases - blood ; Deficiency Diseases - congenital ; Deficiency Diseases - diagnosis ; Deficiency Diseases - epidemiology ; Down Syndrome - diagnosis ; Down syndrome screening ; Female ; Fetal Diseases - blood ; Fetal Diseases - diagnosis ; Fetal Diseases - epidemiology ; France - epidemiology ; Humans ; Mass Screening - methods ; maternal serum markers ; Medical sciences ; Pregnancy ; Pregnancy Outcome ; Pregnancy Trimester, First ; Prenatal Diagnosis ; Retrospective Studies</subject><ispartof>Prenatal diagnosis, 2003-07, Vol.23 (7), p.584-587</ispartof><rights>Copyright © 2003 John Wiley & Sons, Ltd.</rights><rights>2003 INIST-CNRS</rights><rights>Copyright 2003 John Wiley & Sons, Ltd.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c3776-b3beafe74aaa31318a7d504e356deb3e66f07f5deb492127e7e41d377699b5c13</citedby><cites>FETCH-LOGICAL-c3776-b3beafe74aaa31318a7d504e356deb3e66f07f5deb492127e7e41d377699b5c13</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1002%2Fpd.646$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1002%2Fpd.646$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,780,784,1417,27924,27925,45574,45575</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=14944037$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/12868089$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Muller, Françoise</creatorcontrib><creatorcontrib>Dreux, Sophie</creatorcontrib><creatorcontrib>Sault, Corinne</creatorcontrib><creatorcontrib>Galland, Armelle</creatorcontrib><creatorcontrib>Puissant, Hugues</creatorcontrib><creatorcontrib>Couplet, Gisèle</creatorcontrib><creatorcontrib>Lemay, Catherine</creatorcontrib><creatorcontrib>Larcher, Marie-Estelle</creatorcontrib><creatorcontrib>Renom, Gilles</creatorcontrib><creatorcontrib>ABA Group</creatorcontrib><creatorcontrib>for the ABA Group</creatorcontrib><title>Very low alpha-fetoprotein in Down syndrome maternal serum screening</title><title>Prenatal diagnosis</title><addtitle>Prenat. Diagn</addtitle><description>Objective
To establish the frequency of very low maternal serum AFP and to differentiate congenital AFP deficiency from those diseases known to be associated with low AFP.
Methods
AFP values below 2 µg/L and borderline values up to 3 µg/L were retrospectively analysed in 839 773 singleton pregnancies included in a programme for routine screening of trisomy 21 maternal serum markers.
Results
Serum AFP was undetectable (≤2 µg/L) in 8 cases, giving a frequency of 1/105 000. The calculated risk of Down syndrome was ≥1/250 in 5 cases. Fetal karyotype was normal. Seven of these pregnancies went to term (39–41 weeks) uneventfully, and birth weight was normal (3050–4110 g). In the 8th case, fetal death occurred at 35 weeks due to severe maternal diabetes. AFP levels between 2.1 and 3.0 µg/L were noted in 7 other cases. The calculated risk of Down syndrome was ≥1/250 in 5 cases, and fetal karyotype was normal. Pregnancies went to term in 4 cases (33–41 weeks), and birth weight was normal (3000–3380 g). In 3 cases, low hCG (<0.6 MoM) was associated with low AFP, and fetal death occurred at 15 to 16 weeks.
Conclusion
Once technical errors have been excluded (repeat assay in a second run, calcium assayed to exclude the interference of EDTA for fluorimetric methods, dilution to exclude interfering antibodies, running on an alternative analyser, checking a second sample), very low second‐trimester maternal serum AFP should prompt ultrasound examination in order to check fetal viability. Congenital AFP deficiency, an extremely rare disorder (1/100 000), should be suspected. It has no consequences for fetal and infant development, and parents should be reassured. Copyright © 2003 John Wiley & Sons, Ltd.</description><subject>Adult</subject><subject>AFP</subject><subject>alpha-Fetoproteins - deficiency</subject><subject>alpha-Fetoproteins - metabolism</subject><subject>Biological and medical sciences</subject><subject>Cohort Studies</subject><subject>congenital deficiency</subject><subject>Deficiency Diseases - blood</subject><subject>Deficiency Diseases - congenital</subject><subject>Deficiency Diseases - diagnosis</subject><subject>Deficiency Diseases - epidemiology</subject><subject>Down Syndrome - diagnosis</subject><subject>Down syndrome screening</subject><subject>Female</subject><subject>Fetal Diseases - blood</subject><subject>Fetal Diseases - diagnosis</subject><subject>Fetal Diseases - epidemiology</subject><subject>France - epidemiology</subject><subject>Humans</subject><subject>Mass Screening - methods</subject><subject>maternal serum markers</subject><subject>Medical sciences</subject><subject>Pregnancy</subject><subject>Pregnancy Outcome</subject><subject>Pregnancy Trimester, First</subject><subject>Prenatal Diagnosis</subject><subject>Retrospective Studies</subject><issn>0197-3851</issn><issn>1097-0223</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2003</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp10E1PhDAQBuDGaNx11Z9guGjigbWlhdKj2dXVuH4kfh2bAoOiULCFrPx7a5a4J5OmncPTmcmL0CHBU4JxcNZk04hFW2hMsOA-DgK6jcaYuJrGIRmhPWs_nIsDwXfRiARxFONYjNH8BUzvlfXKU2Xzrvwc2roxdQuF9tyZ1yvt2V5npq7Aq1QLRqvSs2C6yrOpAdCFfttHO7kqLRwM7wQ9X148za785f3iena-9FPKeeQnNAGVA2dKKUooiRXPQsyAhlEGCYUoyjHPQ1czEZCAAwdGst-vQiRhSugEnaz7ug2_OrCtrAqbQlkqDXVnJaeME3dtYGpqaw3ksjFFpUwvCZa_eckmky4vB4-Gjl1SQbZhQ0AOHA9A2VSVuVE6LezGMcEYpty507VbFSX0_4yTD_P1UH9tC9vC959V5lNGnPJQvt4t5Iwsb8Rt_CgZ_QHVzY5n</recordid><startdate>200307</startdate><enddate>200307</enddate><creator>Muller, Françoise</creator><creator>Dreux, Sophie</creator><creator>Sault, Corinne</creator><creator>Galland, Armelle</creator><creator>Puissant, Hugues</creator><creator>Couplet, Gisèle</creator><creator>Lemay, Catherine</creator><creator>Larcher, Marie-Estelle</creator><creator>Renom, Gilles</creator><general>John Wiley & Sons, Ltd</general><general>Wiley</general><scope>BSCLL</scope><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>200307</creationdate><title>Very low alpha-fetoprotein in Down syndrome maternal serum screening</title><author>Muller, Françoise ; Dreux, Sophie ; Sault, Corinne ; Galland, Armelle ; Puissant, Hugues ; Couplet, Gisèle ; Lemay, Catherine ; Larcher, Marie-Estelle ; Renom, Gilles</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3776-b3beafe74aaa31318a7d504e356deb3e66f07f5deb492127e7e41d377699b5c13</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2003</creationdate><topic>Adult</topic><topic>AFP</topic><topic>alpha-Fetoproteins - deficiency</topic><topic>alpha-Fetoproteins - metabolism</topic><topic>Biological and medical sciences</topic><topic>Cohort Studies</topic><topic>congenital deficiency</topic><topic>Deficiency Diseases - blood</topic><topic>Deficiency Diseases - congenital</topic><topic>Deficiency Diseases - diagnosis</topic><topic>Deficiency Diseases - epidemiology</topic><topic>Down Syndrome - diagnosis</topic><topic>Down syndrome screening</topic><topic>Female</topic><topic>Fetal Diseases - blood</topic><topic>Fetal Diseases - diagnosis</topic><topic>Fetal Diseases - epidemiology</topic><topic>France - epidemiology</topic><topic>Humans</topic><topic>Mass Screening - methods</topic><topic>maternal serum markers</topic><topic>Medical sciences</topic><topic>Pregnancy</topic><topic>Pregnancy Outcome</topic><topic>Pregnancy Trimester, First</topic><topic>Prenatal Diagnosis</topic><topic>Retrospective Studies</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Muller, Françoise</creatorcontrib><creatorcontrib>Dreux, Sophie</creatorcontrib><creatorcontrib>Sault, Corinne</creatorcontrib><creatorcontrib>Galland, Armelle</creatorcontrib><creatorcontrib>Puissant, Hugues</creatorcontrib><creatorcontrib>Couplet, Gisèle</creatorcontrib><creatorcontrib>Lemay, Catherine</creatorcontrib><creatorcontrib>Larcher, Marie-Estelle</creatorcontrib><creatorcontrib>Renom, Gilles</creatorcontrib><creatorcontrib>ABA Group</creatorcontrib><creatorcontrib>for the ABA Group</creatorcontrib><collection>Istex</collection><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Prenatal diagnosis</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Muller, Françoise</au><au>Dreux, Sophie</au><au>Sault, Corinne</au><au>Galland, Armelle</au><au>Puissant, Hugues</au><au>Couplet, Gisèle</au><au>Lemay, Catherine</au><au>Larcher, Marie-Estelle</au><au>Renom, Gilles</au><aucorp>ABA Group</aucorp><aucorp>for the ABA Group</aucorp><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Very low alpha-fetoprotein in Down syndrome maternal serum screening</atitle><jtitle>Prenatal diagnosis</jtitle><addtitle>Prenat. Diagn</addtitle><date>2003-07</date><risdate>2003</risdate><volume>23</volume><issue>7</issue><spage>584</spage><epage>587</epage><pages>584-587</pages><issn>0197-3851</issn><eissn>1097-0223</eissn><coden>PRDIDM</coden><abstract>Objective
To establish the frequency of very low maternal serum AFP and to differentiate congenital AFP deficiency from those diseases known to be associated with low AFP.
Methods
AFP values below 2 µg/L and borderline values up to 3 µg/L were retrospectively analysed in 839 773 singleton pregnancies included in a programme for routine screening of trisomy 21 maternal serum markers.
Results
Serum AFP was undetectable (≤2 µg/L) in 8 cases, giving a frequency of 1/105 000. The calculated risk of Down syndrome was ≥1/250 in 5 cases. Fetal karyotype was normal. Seven of these pregnancies went to term (39–41 weeks) uneventfully, and birth weight was normal (3050–4110 g). In the 8th case, fetal death occurred at 35 weeks due to severe maternal diabetes. AFP levels between 2.1 and 3.0 µg/L were noted in 7 other cases. The calculated risk of Down syndrome was ≥1/250 in 5 cases, and fetal karyotype was normal. Pregnancies went to term in 4 cases (33–41 weeks), and birth weight was normal (3000–3380 g). In 3 cases, low hCG (<0.6 MoM) was associated with low AFP, and fetal death occurred at 15 to 16 weeks.
Conclusion
Once technical errors have been excluded (repeat assay in a second run, calcium assayed to exclude the interference of EDTA for fluorimetric methods, dilution to exclude interfering antibodies, running on an alternative analyser, checking a second sample), very low second‐trimester maternal serum AFP should prompt ultrasound examination in order to check fetal viability. Congenital AFP deficiency, an extremely rare disorder (1/100 000), should be suspected. It has no consequences for fetal and infant development, and parents should be reassured. Copyright © 2003 John Wiley & Sons, Ltd.</abstract><cop>Chichester, UK</cop><pub>John Wiley & Sons, Ltd</pub><pmid>12868089</pmid><doi>10.1002/pd.646</doi><tpages>4</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0197-3851 |
| ispartof | Prenatal diagnosis, 2003-07, Vol.23 (7), p.584-587 |
| issn | 0197-3851 1097-0223 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_73471734 |
| source | MEDLINE; Access via Wiley Online Library |
| subjects | Adult AFP alpha-Fetoproteins - deficiency alpha-Fetoproteins - metabolism Biological and medical sciences Cohort Studies congenital deficiency Deficiency Diseases - blood Deficiency Diseases - congenital Deficiency Diseases - diagnosis Deficiency Diseases - epidemiology Down Syndrome - diagnosis Down syndrome screening Female Fetal Diseases - blood Fetal Diseases - diagnosis Fetal Diseases - epidemiology France - epidemiology Humans Mass Screening - methods maternal serum markers Medical sciences Pregnancy Pregnancy Outcome Pregnancy Trimester, First Prenatal Diagnosis Retrospective Studies |
| title | Very low alpha-fetoprotein in Down syndrome maternal serum screening |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2024-12-24T21%3A24%3A43IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_cross&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Very%20low%20alpha-fetoprotein%20in%20Down%20syndrome%20maternal%20serum%20screening&rft.jtitle=Prenatal%20diagnosis&rft.au=Muller,%20Fran%C3%A7oise&rft.aucorp=ABA%20Group&rft.date=2003-07&rft.volume=23&rft.issue=7&rft.spage=584&rft.epage=587&rft.pages=584-587&rft.issn=0197-3851&rft.eissn=1097-0223&rft.coden=PRDIDM&rft_id=info:doi/10.1002/pd.646&rft_dat=%3Cproquest_cross%3E73471734%3C/proquest_cross%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=73471734&rft_id=info:pmid/12868089&rfr_iscdi=true |